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The Voices of Charcot-Marie-Tooth

Michael Nagle for The New York TimesMatthew Downing puts an orthopedic brace on the foot of his son Matthew, 5. Both have Charcot-Marie-Tooth, a progressive neurodegenerative disorder.

People with the neurological disorder called Charcot-Marie-Tooth must contend not only with pain and muscle weakness but also the frustration of having a disease with a funny-sounding name that most people have never heard of.

In this week’s Patient Voices series, the Times Web producer Karen Barrow focuses on Charcot-Marie-Tooth disease, one of the most common inherited neurological disorders.

People with Charcot-Marie-Tooth may slowly develop problems walking as the nerves in their feet and legs degenerate. As the disease progresses, they may also lose motor function in their hands. Charcot-Marie-Tooth runs in families, and many patients with the disease have parents, siblings and children who also have the condition.

The odd name of the disease comes from the last names of the three doctors who discovered it in 1886 — Jean-Martin Charcot, Pierre Marie and Howard Henry Tooth.

Although patients with this condition face many challenges and limited mobility, the disease is not considered to be fatal, and most people have a normal life span.

“To have a disease that’s not well known is scary,” says Bernadette Scarduzio, 31, of Drexel Hill, Pa. “My family hid it. I didn’t even know my dad had C.M.T.”

Ms. Scarduzio no longer wants to hide the disease. “I want to be the face for that disease,” she says. “I want everybody to know that that’s what I have. The people that are hiding I need them to come out and say: ‘Yes, I have this disease. I know the name is silly.’ That’s the only way we’re going to get a cure for C.M.T.”

Joseph Torello, 29, of Queens, learned he had the condition after taking up tap dancing at the age of 11. After having difficulty flexing his feet, he sought medical help and was given the diagnosis.

“They basically said, ‘Give up being a dancer, give up sports,” says Mr. Torello, who is now an actor. “I refused to take that as an answer, and kept dancing and haven’t stopped.”